Canonical Allele Identifier: CA9911987

Gene: SALL4

Linked Data

• ClinVar Variation Id: 1174696
• ClinVar RCV Id: RCV001528501
• dbSNP Id: rs780276827
• ExAC: 20:50401133 C / T
• gnomAD v2: 20-50401133-C-T
• gnomAD v3: 20-51784594-C-T
• gnomAD v4: 20-51784594-C-T
• MyVariant Identifiers: chr20:g.50401133C>T (hg19) ; chr20:g.51784594C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.51784594C>T , CM000682.2:g.51784594C>T	GRCh38
NC_000020.10:g.50401133C>T , CM000682.1:g.50401133C>T	GRCh37
NC_000020.9:g.49834540C>T	NCBI36
NG_008000.1:g.22916G>A , LRG_675:g.22916G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000217086.9:c.2833G>A MANE Select	ENSP00000217086.4:p.Asp945Asn
ENST00000217086.8:c.2833G>A	ENSP00000217086.4:p.Asp945Asn
ENST00000371539.7:c.502G>A	ENSP00000360594.3:p.Asp168Asn
ENST00000395997.3:c.1522G>A	ENSP00000379319.3:p.Asp508Asn
NM_020436.3:c.2833G>A , LRG_675t1:c.2833G>A	NP_065169.1:p.Asp945Asn
XM_005260467.2:c.2527G>A	XP_005260524.1:p.Asp843Asn
XM_006723834.2:c.2527G>A	XP_006723897.1:p.Asp843Asn
XM_011528919.1:c.2707G>A	XP_011527221.1:p.Asp903Asn
XM_011528920.1:c.2527G>A	XP_011527222.1:p.Asp843Asn
XM_011528921.1:c.2527G>A	XP_011527223.1:p.Asp843Asn
XM_011528922.1:c.2527G>A	XP_011527224.1:p.Asp843Asn
XM_011528923.1:c.1522G>A	XP_011527225.1:p.Asp508Asn
NM_001318031.1:c.1522G>A	NP_001304960.1:p.Asp508Asn
NM_020436.4:c.2833G>A	NP_065169.1:p.Asp945Asn
XM_005260467.4:c.2527G>A	XP_005260524.1:p.Asp843Asn
XM_011528921.2:c.2527G>A	XP_011527223.1:p.Asp843Asn
XM_011528922.2:c.2527G>A	XP_011527224.1:p.Asp843Asn
NM_020436.5:c.2833G>A MANE Select	NP_065169.1:p.Asp945Asn
NM_001318031.2:c.1522G>A	NP_001304960.1:p.Asp508Asn